Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.040 | 22 | 28735438 | intron variant | T/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 0.882 | 0.040 | 22 | 38081923 | synonymous variant | G/A | snv | 0.47 | 0.46 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.882 | 0.040 | 16 | 73898 | intron variant | A/T | snv | 0.67 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.040 | MT | 14798 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.040 | 15 | 43883735 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.882 | 0.040 | 12 | 106419124 | intron variant | T/C | snv | 0.22 | 0.710 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.040 | 6 | 31165582 | missense variant | T/A | snv | 5.0E-04 | 8.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.882 | 0.040 | 7 | 55080369 | intron variant | AA/-;A;AAA;AAAA;AAAAAAAAAAA | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.040 | 20 | 63689615 | synonymous variant | T/C | snv | 0.74 | 0.81 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 0.040 | 11 | 114160077 | non coding transcript exon variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.040 | 7 | 512435 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.040 | 6 | 30889239 | missense variant | G/A | snv | 8.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.851 | 0.040 | 16 | 6910689 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.925 | 0.040 | 2 | 47799866 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.851 | 0.120 | 8 | 129479506 | intron variant | T/G | snv | 0.17 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
5 | 0.827 | 0.040 | 6 | 43768759 | upstream gene variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.040 | 16 | 24566445 | intron variant | T/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.882 | 0.040 | 7 | 55091656 | intron variant | A/G;T | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.040 | 5 | 81411157 | non coding transcript exon variant | T/A | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.080 | 11 | 118657714 | 3 prime UTR variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.040 | 6 | 41163980 | upstream gene variant | A/G | snv | 2.2E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.080 | 16 | 56402912 | intron variant | A/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.040 | 11 | 108364388 | intron variant | C/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.827 | 0.080 | 16 | 56363027 | missense variant | T/A | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.827 | 0.120 | 11 | 105030337 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 |